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    WDR62 WD repeat domain 62 [ Homo sapiens (human) ]

    Gene ID: 284403, updated on 9-Jun-2016
    Official Symbol
    WDR62provided by HGNC
    Official Full Name
    WD repeat domain 62provided by HGNC
    Primary source
    HGNC:HGNC:24502
    See related
    Ensembl:ENSG00000075702 HPRD:10721; MIM:613583; Vega:OTTHUMG00000048139
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCPH2; C19orf14
    Summary
    This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
    Orthologs
    Location:
    19q13.12
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (36054881..36111145)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36545783..36596012)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927572 Neighboring gene CAP-Gly domain containing linker protein 3 Neighboring gene THAP domain containing 8 Neighboring gene RNA, Ro-associated Y5 pseudogene 10 Neighboring gene ovo like zinc finger 3 Neighboring gene polymerase (RNA) II subunit I Neighboring gene tubulin folding cofactor B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ33298, MGC166976, DKFZp434J046, DKFZp686G1024

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centriole IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    WD repeat-containing protein 62
    Names
    microcephaly, primary autosomal recessive 2
    truncated WDR62

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028101.1 RefSeqGene

      Range
      5001..55230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083961.1NP_001077430.1  WD repeat-containing protein 62 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004144, AK090617, AW029580, BC058939
      Consensus CDS
      CCDS46059.1
      UniProtKB/Swiss-Prot
      O43379
      Related
      ENSP00000384792, OTTHUMP00000045820, ENST00000401500, OTTHUMT00000109534
      Conserved Domains (2) summary
      COG2319
      Location:436744
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:492744
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_173636.4NP_775907.4  WD repeat-containing protein 62 isoform 2

      See identical proteins and their annotated locations for NP_775907.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC004144, AK090617, AW029580, BC017261, BC058939
      Consensus CDS
      CCDS33001.1
      UniProtKB/Swiss-Prot
      O43379
      Related
      ENSP00000270301, OTTHUMP00000267372, ENST00000270301, OTTHUMT00000457436
      Conserved Domains (2) summary
      COG2319
      Location:436744
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:492744
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      36054881..36111145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026665.1XP_016882154.1  

    2. XM_005258809.2XP_005258866.1  

      Conserved Domains (2) summary
      COG2319
      Location:436788
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:492744
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. XM_011526838.1XP_011525140.1  

      Conserved Domains (2) summary
      COG2319
      Location:436744
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:492744
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    4. XM_011526837.1XP_011525139.1  

      Conserved Domains (2) summary
      COG2319
      Location:431783
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:487739
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    5. XM_011526839.1XP_011525141.1  

      Conserved Domains (2) summary
      COG2319
      Location:95591
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:375627
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    6. XM_011526840.2XP_011525142.1  

      Conserved Domains (2) summary
      COG2319
      Location:100408
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:156408
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    7. XM_011526841.2XP_011525143.1  

      Conserved Domains (2) summary
      COG2319
      Location:18314
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:18270
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    8. XM_011526842.1XP_011525144.1  

      Conserved Domains (2) summary
      COG2319
      Location:3221
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:10219
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    9. XM_011526843.1XP_011525145.1  

      See identical proteins and their annotated locations for XP_011525145.1

      Conserved Domains (1) summary
      PHA03247
      Location:432662
      PHA03247; large tegument protein UL36; Provisional
    10. XM_011526844.2XP_011525146.1  

      See identical proteins and their annotated locations for XP_011525146.1

      Conserved Domains (1) summary
      PHA03247
      Location:432662
      PHA03247; large tegument protein UL36; Provisional

    RNA

    1. XR_001753671.1 RNA Sequence

    2. XR_001753672.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      36547139..36597353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)